2-20774826-C-T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_021925.4(LDAH):c.452G>A(p.Arg151Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00946 in 1,612,958 control chromosomes in the GnomAD database, including 108 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_021925.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00792 AC: 1205AN: 152196Hom.: 12 Cov.: 32
GnomAD3 exomes AF: 0.00841 AC: 2114AN: 251274Hom.: 20 AF XY: 0.00835 AC XY: 1134AN XY: 135768
GnomAD4 exome AF: 0.00962 AC: 14058AN: 1460644Hom.: 96 Cov.: 31 AF XY: 0.00936 AC XY: 6802AN XY: 726650
GnomAD4 genome AF: 0.00791 AC: 1205AN: 152314Hom.: 12 Cov.: 32 AF XY: 0.00843 AC XY: 628AN XY: 74468
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at